6860[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 2018578	NM_005204.4(MAP3K8):c.5A>C (p.Glu2Ala)	MAP3K8 (E2A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1619688	NM_005204.4(MAP3K8):c.9C>T (p.Tyr3=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3123032	NM_005204.4(MAP3K8):c.14G>T (p.Ser5Ile)	MAP3K8 (S5I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2901509	NM_005204.4(MAP3K8):c.15C>A (p.Ser5Arg)	MAP3K8 (S5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473251	NM_005204.4(MAP3K8):c.20G>A (p.Gly7Glu)	MAP3K8 (G7E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485445	NM_005204.4(MAP3K8):c.26A>G (p.Asp9Gly)	MAP3K8 (D9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3014178	NM_005204.4(MAP3K8):c.42T>C (p.Ile14=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984839	NM_005204.4(MAP3K8):c.64A>C (p.Asn22His)	MAP3K8 (N22H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661641	NM_005204.4(MAP3K8):c.69G>A (p.Val23=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512992	NM_005204.4(MAP3K8):c.71C>T (p.Ser24Phe)	MAP3K8 (S24F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421464	NM_005204.4(MAP3K8):c.82G>A (p.Asp28Asn)	MAP3K8 (D28N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942389	NM_005204.4(MAP3K8):c.93A>G (p.Glu31=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2553303	NM_005204.4(MAP3K8):c.103G>T (p.Ala35Ser)	MAP3K8 (A35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1977331	NM_005204.4(MAP3K8):c.138A>G (p.Leu46=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1350193	NM_005204.4(MAP3K8):c.141G>A (p.Met47Ile)	MAP3K8 (M47I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525745	NM_005204.4(MAP3K8):c.146T>A (p.Met49Lys)	MAP3K8 (M49K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110437	NM_005204.4(MAP3K8):c.155A>G (p.Asp52Gly)	MAP3K8 (D52G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776503	NM_005204.4(MAP3K8):c.159T>C (p.Ser53=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2234547	NM_005204.4(MAP3K8):c.160A>G (p.Asn54Asp)	MAP3K8 (N54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1371248	NM_005204.4(MAP3K8):c.169G>A (p.Asp57Asn)	MAP3K8 (D57N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2895706	NM_005204.4(MAP3K8):c.174G>A (p.Glu58=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632880	NM_005204.4(MAP3K8):c.175C>T (p.Arg59Cys)	MAP3K8 (R59C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1397583	NM_005204.4(MAP3K8):c.176G>A (p.Arg59His)	MAP3K8 (R59H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469837	NM_005204.4(MAP3K8):c.196A>G (p.Ser66Gly)	MAP3K8 (S66G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803160	NM_005204.4(MAP3K8):c.200G>A (p.Gly67Asp)	MAP3K8 (G67D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2982475	NM_005204.4(MAP3K8):c.222A>G (p.Ser74=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1584423	NM_005204.4(MAP3K8):c.222A>C (p.Ser74=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2099713	NM_005204.4(MAP3K8):c.227T>C (p.Val76Ala)	MAP3K8 (V76A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174756	NM_005204.4(MAP3K8):c.234T>C (p.Tyr78=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2025669	NM_005204.4(MAP3K8):c.240T>C (p.Thr80=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654334	NM_005204.4(MAP3K8):c.243G>A (p.Val81=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1498924	NM_005204.4(MAP3K8):c.268C>T (p.His90Tyr)	MAP3K8 (H90Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929120	NM_005204.4(MAP3K8):c.269A>G (p.His90Arg)	MAP3K8 (H90R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365710	NM_005204.4(MAP3K8):c.277A>G (p.Asn93Asp)	MAP3K8 (N93D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913667	NM_005204.4(MAP3K8):c.304C>G (p.Arg102Gly)	MAP3K8 (R102G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428416	NM_005204.4(MAP3K8):c.334A>G (p.Met112Val)	MAP3K8 (M112V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376854	NM_005204.4(MAP3K8):c.336+4C>T	MAP3K8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2827975	NM_005204.4(MAP3K8):c.336+5G>A	MAP3K8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1932293	NM_005204.4(MAP3K8):c.336+7T>G	MAP3K8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656047	NM_005204.4(MAP3K8):c.336+14C>T	MAP3K8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116367	NM_005204.4(MAP3K8):c.336+15G>T	MAP3K8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910339	NM_005204.4(MAP3K8):c.336+15G>A	MAP3K8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1617393	NM_005204.4(MAP3K8):c.336+19A>T	MAP3K8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1914569	NM_005204.4(MAP3K8):c.336+20G>A	MAP3K8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278901	NM_005204.4(MAP3K8):c.336+47A>G	MAP3K8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221864	NM_005204.4(MAP3K8):c.336+261T>C	MAP3K8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180042	NM_005204.4(MAP3K8):c.336+286C>T	MAP3K8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2908355	NM_005204.4(MAP3K8):c.337-6T>C	MAP3K8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2630906	NM_005204.4(MAP3K8):c.346C>A (p.Pro116Thr)	MAP3K8 (P116T)	Single nucleotide variant (missense variant)	MAP3K8-related disorder	GUncertain significance
Select item 2866660	NM_005204.4(MAP3K8):c.348C>A (p.Pro116=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997182	NM_005204.4(MAP3K8):c.351A>G (p.Gln117=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751007	NM_005204.4(MAP3K8):c.360T>C (p.Arg120=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949558	NM_005204.4(MAP3K8):c.366A>G (p.Gln122=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625978	NM_005204.4(MAP3K8):c.375C>T (p.Ser125=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378246	NM_005204.4(MAP3K8):c.382C>T (p.Leu128Phe)	MAP3K8 (L128F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1555631	NM_005204.4(MAP3K8):c.384C>G (p.Leu128=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499277	NM_005204.4(MAP3K8):c.418G>T (p.Gly140Cys)	MAP3K8 (G140C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573627	NM_005204.4(MAP3K8):c.441C>T (p.Gly147=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896807	NM_005204.4(MAP3K8):c.442G>A (p.Ala148Thr)	MAP3K8 (A148T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1673509	NM_005204.4(MAP3K8):c.465A>G (p.Ala155=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925068	NM_005204.4(MAP3K8):c.473T>C (p.Ile158Thr)	MAP3K8 (I158T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032876	NM_005204.4(MAP3K8):c.479C>T (p.Thr160Met)	MAP3K8 (T160M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1566859	NM_005204.4(MAP3K8):c.480G>A (p.Thr160=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624762	NM_005204.4(MAP3K8):c.495G>A (p.Ala165=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002642	NM_005204.4(MAP3K8):c.504+6T>C	MAP3K8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1179516	NM_005204.4(MAP3K8):c.505-129A>G	MAP3K8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1624390	NM_005204.4(MAP3K8):c.505-10T>C	MAP3K8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908390	NM_005204.4(MAP3K8):c.505-6T>C	MAP3K8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869083	NM_005204.4(MAP3K8):c.519A>G (p.Gln173=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040798	NM_005204.4(MAP3K8):c.525G>A (p.Lys175=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2539183	NM_005204.4(MAP3K8):c.530C>G (p.Ser177Cys)	MAP3K8 (S177C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1449457	NM_005204.4(MAP3K8):c.557G>A (p.Arg186Gln)	MAP3K8 (R186Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461331	NM_005204.4(MAP3K8):c.562G>A (p.Glu188Lys)	MAP3K8 (E188K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1657247	NM_005204.4(MAP3K8):c.570C>T (p.Ile190=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1593432	NM_005204.4(MAP3K8):c.573A>G (p.Ala191=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2422013	NM_005204.4(MAP3K8):c.585C>T (p.Gly195=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1411889	NM_005204.4(MAP3K8):c.587C>T (p.Ala196Val)	MAP3K8 (A196V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502066	NM_005204.4(MAP3K8):c.595T>A (p.Trp199Arg)	MAP3K8 (W199R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011616	NM_005204.4(MAP3K8):c.597G>C (p.Trp199Cys)	MAP3K8 (W199C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913037	NM_005204.4(MAP3K8):c.615C>G (p.Leu205=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1388141	NM_005204.4(MAP3K8):c.630C>T (p.Gly210=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1536969	NM_005204.4(MAP3K8):c.660G>A (p.Glu220=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833081	NM_005204.4(MAP3K8):c.667G>A (p.Gly223Arg)	MAP3K8 (G223R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631975	NM_005204.4(MAP3K8):c.669A>G (p.Gly223=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2021350	NM_005204.4(MAP3K8):c.687A>T (p.Glu229Asp)	MAP3K8 (E229D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168778	NM_005204.4(MAP3K8):c.766+6T>C	MAP3K8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1262218	NM_005204.4(MAP3K8):c.767-188G>A	MAP3K8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2747277	NM_005204.4(MAP3K8):c.770G>A (p.Ser257Asn)	MAP3K8 (S257N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930332	NM_005204.4(MAP3K8):c.777T>C (p.Ile259=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3030563	NM_005204.4(MAP3K8):c.784A>C (p.Met262Leu)	MAP3K8 (M262L)	Single nucleotide variant (missense variant)	MAP3K8-related disorder	GUncertain significance
Select item 2971729	NM_005204.4(MAP3K8):c.807G>A (p.Val269=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959885	NM_005204.4(MAP3K8):c.826C>G (p.Gln276Glu)	MAP3K8 (Q276E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896729	NM_005204.4(MAP3K8):c.831G>A (p.Met277Ile)	MAP3K8 (M277I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1653048	NM_005204.4(MAP3K8):c.834C>T (p.Thr278=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912202	NM_005204.4(MAP3K8):c.835G>A (p.Glu279Lys)	MAP3K8 (E279K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1636975	NM_005204.4(MAP3K8):c.858C>T (p.Asp286=)	MAP3K8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983321	NM_005204.4(MAP3K8):c.873+9G>A	MAP3K8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009773	NM_005204.4(MAP3K8):c.873+14C>T	MAP3K8	Single nucleotide variant (intron variant)	not provided	GLikely benign

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